syndromic X-linked intellectual disability Shashi type

Summary

DOID:0060826 - syndromic X-linked intellectual disability Shashi type

Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.

Synonyms: mental retardation, X-linked, syndromic 11, Shashi type, MRXS11, Shashi X-linked mental retardation syndrome, SMRXS, syndromic X-linked intellectual disability type 11, X-linked mental retardation Shashi type

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rbmx

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010277 - syndromic X-linked intellectual disability Shashi type

MONDO:0010277 - syndromic X-linked intellectual disability Shashi type

MIM:

MIM:300238 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SHASHI TYPE; MRXSSH

MIM:300238 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SHASHI TYPE; MRXSSH

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a)